Novel Phenotypic Insights into the <i>IDS</i> c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts

Mucopolysaccharidosis (MPS) type II, or Hunter syndrome, is an X-linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase. Glycosaminoglycan (GAG) accumulation leads to progressive multisystemic involvement, with coarse facial features, hepatosplenomegaly, short stature, rec...

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Autors principals:	Éliane Beauregard-Lacroix, Caitlin Menello, Madeline Steffensen, Hsiang-Yu Lin, Chih-Kuang Chuang, Shuan-Pei Lin, Can Ficicioglu
Format:	Artigo
Idioma:	Inglês
Publicat:	MDPI AG 2025-08-01
Col·lecció:	International Journal of Neonatal Screening
Matèries:	mucopolysaccharidosis type II Hunter syndrome lysosomal storage disease newborn screening
Accés en línia:	https://www.mdpi.com/2409-515X/11/3/68
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